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  1. 11821
    “…Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart. …”
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    Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family
  2. 11822
    “…Anthropometric and cardiometabolic parameters were assessed at school-age, and the Korean Wechsler Intelligence Scale for Children, fourth edition (K-WISC-IV) was used for assessing the intellectual abilities. The growth velocity was calculated by changes in the weight z-score at each time period. …”
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    Impact of size at birth and postnatal growth on metabolic and neurocognitive outcomes in prematurely born school-age children
  3. 11823
    “…Here we report on the preclinical and early clinical profile of a novel GABA(A)-α5 selective negative allosteric modulator (NAM), basmisanil, which progressed into Phase II trials for intellectual disability in Down syndrome and cognitive impairment associated with schizophrenia. …”
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    Basmisanil, a highly selective GABA(A)-α5 negative allosteric modulator: preclinical pharmacology and demonstration of functional target engagement in man
  4. 11824
    “…PRIMARY AND SECONDARY OUTCOME MEASURES: We evaluated intellectual function, memory, frontal lobe function and constructional ability. …”
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    Investigation of hypertensive arteriopathy-related and cerebral amyloid angiopathy-related small vessel disease scores in patients from a memory clinic: a prospective single-centre study
  5. 11825
    “…Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. …”
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    Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
  6. 11826
    “…BACKGROUND: Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID). It is broadly agreed that the presence of extra genetic material in T21 gives origin to an altered expression of genes located on Hsa21 leading to DS phenotype. …”
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    The transcriptome profile of human trisomy 21 blood cells
  7. 11827
    “…All patients, except one with intellectual impairments, had radiological healing. Implant removal time was significantly shorter in group B compared to group A. …”
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    Comparison of two methods in the treatment of congenital pseudarthrosis of clavicle: multicenter experience
  8. 11828
    “…Compared with the 16q24.3 microdeletion, patients harboring ANKRD11 gene mutations showed significantly higher frequency of malformations including macrodontia, long philtrum, abnormal eyebrows, widely spaced eyes, anteverted nares, eyelid ptosis, brachydactyly, brachycephaly (P<0.05), and significantly lower risk of congenital heart diseases and frontal bossing (P<0.05). The intellectual disability (ID) was significantly milder among patients carrying truncating variants located between repression domain 1 (RD1) and activation domain (AD) than those carrying mutations disrupting repression domain 2 (RD2) alone and disrupting all functional domain (RD1, AD or RD2) (P<0.05). …”
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    Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome
  9. 11829
    “…The final consensus was later circulated to the panellists for critical revision of important intellectual content. Results and conclusion: These recommendations represent the available clinical evidence and expert opinion when evidence is scarce. …”
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    Breast-Gynaecological & Immuno-Oncology International Cancer Conference (BGICC) Consensus and Recommendations for the Management of Triple-Negative Breast Cancer
  10. 11830
    “…Neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID), were defined by ICD-coded register diagnosis. …”
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    Maternal hypertensive disorders and neurodevelopmental disorders in offspring: a population-based cohort in two Nordic countries
  11. 11831
    “…RESULTS: A homozygous variant EMC10 c.287delG (Refseq NM_206538.3, p.Gly96Alafs*9) segregated with affected individuals in each family, who exhibited a phenotypic spectrum of intellectual disability (ID) and global developmental delay (GDD), variable seizures and variable dysmorphic features (elongated face, curly hair, cubitus valgus, and arachnodactyly). …”
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    A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
  12. 11832
    “…Key exclusion criteria are severe depression or anxiety, impaired intellectual functioning and being medically unstable to walk. …”
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    Motivational interviewing with community-dwelling older adults after hip fracture (MIHip): protocol for a randomised controlled trial
  13. 11833
    “…At the age of 18 months showed severe impairments of motor and intellectual function with poor eye contact. When the patient was 4 years old, a genetic variant in the exon 24 of the KCNT1 gene was found. …”
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    Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy
  14. 11834
    por Xiong, Yan-Hong, Xu, Xue-Nian, Zheng, Bin
    Publicado 2021
    “…METHODS: The patent databases of China National Intellectual Property Administration and Baiten were comprehensively searched, and patented technologies for schistosomiasis control and prevention, published between January 1950 and December 2020 filed by Chinese applicants were sorted on 30 December 2020. …”
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    Patented technologies for schistosomiasis control and prevention filed by Chinese applicants
  15. 11835
    “…On meta-analysis, involuntary rather than voluntary hospitalisation of minors was associated with a diagnosis of psychosis (eight studies; odds ratio 3·63, 95% CI 2·43–5·44, p<0·0001), substance misuse (five studies; 1·87, 1·05–3·30, p=0·032), or intellectual disability (four studies; 3·33, 1·33–8·34, p=0·010), as well as presenting with a perceived risk of harm to self (eight studies; 2·05, 1·15–3·64, p=0·015) or to others (five studies; 2·37, 1·39–4·03, p=0·0015). …”
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    Clinical and social factors associated with involuntary psychiatric hospitalisation in children and adolescents: a systematic review, meta-analysis, and narrative synthesis
  16. 11836
    “…Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu–Cheney syndrome, Sheldon–Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). …”
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    Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
  17. 11837
    por Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
    Publicado 2021
    “…Neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly, congenital heart anomalies, palate defects, renal malformations, strabismus, hearing loss, recurrent infections, hyperinsulinism, seizures, joint hypermobility, and gastroesophageal reflux were frequent clinical findings. …”
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    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
  18. 11838
    “…BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. …”
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    Characterisation of the clinical phenotype in Phelan-McDermid syndrome
  19. 11839
    “…Exclusion criteria included intellectual disability (intelligence quotient <70), autism spectrum disorder, or recent serious injury. …”
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    Assessment of Somatosensory Function and Self-harm in Adolescents
  20. 11840
    “…Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases. CONCLUSION: ACF is a facial dysmorphism frequently accompanied by other systemic deformities. …”
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    Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
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